A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10400365



Internal ID1309043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4666688..4689450hg38UCSC Ensembl
Innerchr2:4666715..4689423hg38UCSC Ensembl
Outerchr2:4666661..4689477hg38UCSC Ensembl
chr2:4714278..4737040hg19UCSC Ensembl
Innerchr2:4714305..4737013hg19UCSC Ensembl
Outerchr2:4714251..4737067hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3822763
hg1922763
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589688
Supporting Variants
SamplesHG01148
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10400365
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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